Clinical Features and Genetic Characteristics of XLID Patients With KDM5C Gene Mutations: Insights on Phenotype-Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant.

Background: X-linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This study aimed to identify novel variants associated with XLID and to investigate the clinical and genetic characteristics of XLID patients with mutations in the KDM5C gene.

Dislodgement of balloon expandable stent graft in aortic coarctoplasty, protector or proctor fault?: A case report.

Introduction: Coarctation of the aorta is a congenital narrowing of the thoracic aorta associated with hypertension and significant pressure gradients across the coarctation site. Coarctoplasty by percutaneous approach is the preferred method of treatment. However, complications like stent dislodgement may result and must be immediately managed to prevent adverse outcomes.

Effects of melatonin on the mitogen-activated protein kinase signaling genes in hypoxic Leydig cells.

Leydig cells play a crucial role in male reproductive physiology, and their dysfunction is often associated with male infertility. Hypoxia negatively affects the structure and function of Leydig cells. This study aimed to investigate the impact of melatonin on the c-Jun N-terminal kinase (Jnk), P38, and extra-cellular signal-regulated kinases 1 and 2 (Erk1/2) mitogen-activated protein kinase (MAPK) signaling pathways in TM3 mouse Leydig cells under hypoxia induced by cobalt (II) chloride (CoCl).

Relationship between organizational commitment, working environment, and burnout in clinical nurses.

Background: Burnout is a mental condition caused by chronic emotional or psychological stress. Organizational commitment is always an important issue in the field of organizational development of clinical nurses. The study aimed to assess the association between organizational commitment, work environment, and burnout in clinical nurses.

Assessment of the relationship between thinking styles and learning styles with academic performance in medical and nursing students of Kermanshah University of Medical Sciences.

Background: Learning and studying approaches are among the topics of great importance in medical sciences universities. Different approaches to learning can explain why some students learn better than others. This study aims to assess the relationship between learning or thinking styles and academic performance among nursing and medical students.

Substituted piperazine conjugated to quinoline-thiosemicarbazide as potent α-glucosidase inhibitors to target hyperglycemia.

Diabetes mellitus, particularly type 2 diabetes, is a growing global health challenge characterized by chronic hyperglycemia due to insulin resistance. One therapeutic approach to managing this condition is the inhibition of α-glucosidase, an enzyme involved in carbohydrate digestion, to reduce postprandial blood glucose levels. In this study, a series of thiosemicarbazide-linked quinoline-piperazine derivatives were synthesized and evaluated for their α-glucosidase inhibitory activity, to identify new agents for type 2 diabetes management.

Steady state and transient absorption spectroscopy in metal halide perovskites.

Metal halide perovskites (MHPs) have emerged as the most promising materials due to superior optoelectronic properties and great applications spanning from photovoltaics to photonics. Absorption spectroscopy provides a broad and deep insight into the carrier dynamics of MHPs, and is a critical complement to fluorescence and scattering spectroscopy. However, absorption spectroscopy is often misunderstood or underestimated, being seen as UV-vis spectroscopy only, which can lead to various misinterpretations.

Identification of positive childhood experiences with the potential to mitigate childhood unhealthy weight status in children within the context of adverse childhood experiences: a prospective cohort study.

Background: Despite potential protective and mitigating effects of positive childhood experiences (PCEs) on poor health outcomes, limited research has identified relevant PCEs and examined their individual and cumulative associations with weight status, or their mitigating effects on the associations between adverse childhood experiences (ACEs) and obesity in children. This study aims to develop an exploratory PCEs Index with the potential to protect against or mitigate the association between ACEs and unhealthy weight status.

Methods: Data came from the Growing Up in New Zealand study.

Efficacy of melatonin on drug- or contrast-induced acute kidney injury: a systematic review and GRADE-assessed meta-analysis of experimental and clinical studies.

Objective: The objective of this systematic review and meta-analysis was to assess the efficacy of melatonin in drug- or contrast-induced AKI in preclinical and clinical studies.

Methods: PubMed, Embase, Scopus, Web of Science (WOS), the Cochrane Database of Systematic Reviews (CDSR), and clinical trials.GOV from the beginning until August 1, 2024.

Effect of Cyclic Loading on the Fixture-Abutment Microgap in Short Implants Versus Standard Implants: An In Vitro Study.

This study aimed to assess the effect of cyclic loading on the amount of fixture-abutment microgap in short implants compared to standard implants. This in vitro experimental study was conducted on two groups of short and standard implants ( = 10). The microgap at the fixture-abutment interface was measured under a light microscope at ×75 magnification.

The effect of Er:YAG laser irradiation with different frequencies on surface decontamination of used healing abutments: a supplementary approach to sterilization.

Reusing healing abutments is common practice among clinicians; however, ensuring complete surface decontamination is crucial to avoid further complications. This study aimed to evaluate the cleaning potential of Er: YAG laser at different frequencies, as an adjunctive step prior to autoclave sterilization. Forty contaminated healing abutments were divided into four groups.

Involvement of γ-Aminobutyric Acid and N-methyl-D-aspartate Receptors in Diabetic Gastropathy in Rats: Possible Beneficial Effect of Prolonged Treatment with Insulin and Magnesium Supplement.

Gastrointestinal dysfunction is a severe and common complication in diabetic patients. Some evidence shows that gamma-aminobutyric acid (GABA) and glutamate contribute to diabetic gastrointestinal abnormalities. Therefore, we examined the impact of prolonged treatment with insulin and magnesium supplements on the expression pattern of GABA type A (GABA-A), GABA-B, and N-methyl-D-aspartate (NMDA) glutamate receptors as well as nitric oxide synthase 1 (NOS-1) in the stomach of type 2 diabetic rats.

The relationship between serum progesterone level on the day of HCG trigger in IVF/ICSI cycles and oocyte maturation and embryo quality: a retrospective observational study.

Purpose: Previous studies have suggested a link between serum progesterone levels on the day of the HCG trigger in IVF cycles and oocyte and embryo quality. This study aims to explore this relationship more thoroughly.

Methods: This study included 496 infertility patients at Moloud Infertility Treatment Center, Zahedan, Iran.

Heeled shoes increase muscle activity during gait in healthy females: A systematic review and meta-analysis.

Background: Altered muscle activity during gait can change the function of the musculoskeletal system and increase the risk of injury. This systematic review and meta-analysis study aimed to investigate the effect of wearing heeled shoes during gait on muscle activity.

Research Question: Does wearing different heeled shoes (low: 1.

Resilient gas dependency-based planning of electricity distribution systems considering energy storage systems.

This article presents a planning framework to improve the weather-related resilience of natural gas-dependent electricity distribution systems. The problem is formulated as a two-stage stochastic mixed integer linear programing model. In the first stage, the measures for distribution line hardening, gas-fired distributed generation (DG) placement, electrical energy storage resource allocation, and tie-switch placement are determined.

Anticonvulsant effects of pentoxifylline on seizures induced by pentylenetetrazole and maximal electroshock in male mice: The role of the nitrergic pathway.

Introduction: Epilepsy remains a challenge, with one-third of patients experiencing refractory seizures despite current anti-seizure medications. The nitrergic system, which involves nitric oxide (NO) and NO synthase (NOS) enzymes, plays a complex role in seizure pathophysiology. Pentoxifylline (PTPh), an FDA-approved phosphodiesterase inhibitor, has anticonvulsant effects; however, its relationship with the pathway is unclear.

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12.

A study on the correlation between annual noise exposure (ANE) and auditory attention, as well as hearing loss in military personnel.

Background: The accurate processing of auditory signals holds significant importance in military occupations and can be adversely affected by exposure to noise.

Objectives: This study investigates the correlation between annual noise exposure (ANE) and military personnel's auditory attention and hearing loss.

Methods: This study assessed 220 military personnel serving in an armored brigade unit.

Short-term and long-term clinical outcomes of percutaneous coronary intervention on saphenous vein grafts.

Background: Ischemic heart disease (IHD) is the leading cause of 16% of deaths globally. Percutaneous coronary intervention (PCI) and coronary artery bypass grafting (CABG) are the main treatment options. Saphenous vein grafts (SVGs) remain the most frequently used conduits for CABG.

Rhodium-catalyzed transformations of diazo compounds a carbene-based strategy: recent advances.

Diazo compounds are known to be good coupling partners in the synthesis of heterocycles, carbocycles and functionalized molecules a rhodium carbene-based strategy. Many heterocyclic and carbocyclic compounds, including isoquinolones and isocoumarins, quinoxalines, indoles, pyrrones, benzothazines, enaminones, benzenes and seven-membered rings, can be constructed using this rhodium-catalyzed system. The reaction mechanism involves C-H activation, carbene insertion and an annulation/functionalization sequence.

Gold Nanoparticle Detection with Two-Photon Excitation Fluorescence Lifetime Imaging of NAD(P)H in Cancer Cells: An Analytical Approach to Separate Nanoparticle and NAD(P)H Signals.

Gold nanoparticles (AuNPs) have shown promise for applications in the diagnosis and treatment of different diseases, including cancer. Understanding the effect of AuNPs on metabolic reprogramming in cancer cells at the single cell level is of high importance for improving the efficacy and safety. Fluorescence lifetime imaging microscopy (FLIM) of nicotinamide adenine dinucleotide (phosphate) hydrogen (NAD(P)H) as a main metabolic cofactor and an indicator of metabolic reprogramming in cancer cells enables real-time monitoring of cancer cell metabolism in response to different treatments, including AuNPs.

Green synthesis of silver nanoparticles (AgNPs) and chitosan-coated silver nanoparticles (CS-AgNPs) using Ferula gummosa Boiss. gum extract: A green nano drug for potential applications in medicine.

In this study, silver nanoparticles (AgNPs) and chitosan-coated silver nanoparticles (CS-AgNPs) were synthesized in a green way using Ferula gummosa Boiss. gum extract. The as-prepared NPs were employed as efficient nanomaterials for developing antimicrobial, antioxidant, and anticancer agents.

Beginning at the ends: telomere and telomere-based cancer therapeutics.

Telomeres, which are situated at the terminal ends of chromosomes, undergo a reduction in length with each cellular division, ultimately reaching a critical threshold that triggers cellular senescence. Cancer cells circumvent this senescence by utilizing telomere maintenance mechanisms (TMMs) that grant them a form of immortality. These mechanisms can be categorized into two primary processes: the reactivation of telomerase reverse transcriptase and the alternative lengthening of telomeres (ALT) pathway, which is dependent on homologous recombination (HR).

LncRNA MEG3, GAS5, and HOTTIP Polymorphisms Association with Risk of Polycystic Ovary Syndrome: A Case-Control Study and Computational Analyses.

As a multifactorial and endocrine disease, polycystic ovary syndrome (PCOS) affects approximately 5-20% of women worldwide. Recently, long noncoding RNAs (lncRNAs) have emerged as potent predictors of a particular phenotype in PCOS. Our preliminary study examines the link between polymorphisms in lncRNAs MEG3, HOTTIP, and GAS5 and the risk of PCOS.